AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

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言語	英語
著者	Salpietro Vincenzo Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, 16147, Genoa, Italy Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy Dixon Christine L. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Guo Hui Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China Bello Oscar D. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Vandrovcova Jana Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Efthymiou Stephanie Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Maroofian Reza Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Heimer Gali Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel Burglen Lydie Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012, Paris, France Valence Stephanie Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Service de Neurologie Pédiatrique, APHP, Hôpital Trousseau, 75012, Paris, France Torti Erin GeneDx, Gaithersburg, MD, 20877, USA Hacke Moritz Biochemistry Center, Heidelberg University, D-69120, Heidelberg, Germany Rankin Julia Royal Devon and Exeter NHS Foundation Trust, Exeter, EX1 2ED, UK Tariq Huma Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Colin Estelle Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France Procaccio Vincent Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France Striano Pasquale Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, 16147, Genoa, Italy Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy Mankad Kshitij Great Ormond Street Hospital for Children, London, WC1N 3JH, UK Lieb Andreas Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Chen Sharon Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA Pisani Laura Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA Bettencourt Conceicao Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK Mannikko Roope Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Manole Andreea Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Brusco Alfredo Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy Grosso Enrico Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy Ferrero Giovanni Battista Department of Public Health and Pediatrics, University of Torino, 10126, Torino, Italy Armstrong-Moron Judith Unit of Medical and Molecular Genetics, University Hospital Sant Joan de Deu Barcelona, 08950, Barcelona, Spain Gueden Sophie Unit of Neuropediatrics, University Hospital, Angers Cedex, 49933, France Bar-Yosef Omer Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel Tzadok Michal Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel Monaghan Kristin G. GeneDx, Gaithersburg, MD, 20877, USA Santiago-Sim Teresa GeneDx, Gaithersburg, MD, 20877, USA Person Richard E. GeneDx, Gaithersburg, MD, 20877, USA Cho Megan T. GeneDx, Gaithersburg, MD, 20877, USA Willaert Rebecca GeneDx, Gaithersburg, MD, 20877, USA Yoo Yongjin Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea Chae Jong-Hee Department of Pediatrics, Seoul National University, Seoul, 03080, South Korea Quan Yingting Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China Wu Huidan Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China Wang Tianyun Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China Bernier Raphael A. Department of Psychiatry, University of Washington, Seattle, WA, 98195, USA Xia Kun Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China Blesson Alyssa Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA Jain Mahim Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA Motazacker Mohammad M. Department of Clinical Genetics, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, Netherlands Jaeger Bregje Department of Pediatric Neurology, Amsterdam UMC, 1105, Amsterdam, Netherlands Schneider Amy L. Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia Boysen Katja Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia Muir Alison M. Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA Myers Candace T. Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA Gavrilova Ralitza H. Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA Gunderson Lauren Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA Schultz-Rogers Laura Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA Klee Eric W. Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA Dyment David Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada Osmond Matthew Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada Department of Human Genetics, McGill University Health Centre, Montréal, QC, H4A 3J1, Canada Genome Québec Innovation Center, Montréal, QC, H3A 0G1, Canada Parellada Mara Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, 28007, Madrid, Spain Llorente Cloe Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, Universidad Complutense, CIBERSAM, 28007, Madrid, Spain Gonzalez-Penas Javier Hospital Gregorio Maranon, IiSGM, School of Medicine, Calle Dr Esquerdo, 46, 28007, Madrid, Spain Carracedo Angel Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, 15782, Santiago de Compostela, Spain Fundación Pública Galega de Medicina Xenómica- IDIS- Servicio Galego de Saúde (SERGAS), 15706, 15782, Santiago de Compostela, Spain Van Haeringen Arie Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands Ruivenkamp Claudia Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands Nava Caroline Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France Heron Delphine Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France Nardello Rosaria Department of Health Promotion,Mother and Child Care, Internal Medicine and Medical Specialities “G. D’Alessandro”, University of Palermo, 90133, Palermo, Italy Iacomino Michele Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto “Giannina Gaslini”, 16147, Genova, Italy Minetti Carlo Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, 16147, Genoa, Italy Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy Skabar Aldo Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste, 34134, Trieste, Italy Fabretto Antonella Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste, 34134, Trieste, Italy Chez Michael Neuroscience Medical Group, 1625 Stockton Boulevard, Suite 104, Sacramento, CA, 95816, USA Tsai Anne Department of Genetics and Inherited Metabolic diseases, Children’s Hospital Colorado, Aurora, CO, 80045, USA Fassi Emily Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA Shinawi Marwan Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA Constantino John N. William Greenleaf Eliot Division of Child & Adolescent Psychiatry, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA De Zorzi Rita Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy Fortuna Sara Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy Kok Fernando Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo, 01308-000, Brazil Mendelics Genomic Analysis, Sao Paulo, SP, 04013-000, Brazil Keren Boris Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France Bonneau Dominique Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France Choi Murim Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea Benzeev Bruria Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel Zara Federico Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto “Giannina Gaslini”, 16147, Genova, Italy Mefford Heather C. Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA Scheffer Ingrid E. Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia Clayton-Smith Jill Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Lancashire, M13 9WL, UK Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, M13 9WL, UK Macaya Alfons Department of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain Rothman James E. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Department of Cell Biology, Yale University School of Medicine, New Haven, CT, 06520, USA Eichler Evan E. Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA Kullmann Dimitri M. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Houlden Henry Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Raspall-Chaure Miquel Department of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain Hanna Michael G. SYNAPS Study Group Bugiardini Enrico SYNAPS Study Group Hostettler Isabel SYNAPS Study Group O'Callaghan Benjamin SYNAPS Study Group Khan Alaa SYNAPS Study Group Cortese Andrea SYNAPS Study Group O'Connor Emer SYNAPS Study Group Yau Wai Y. SYNAPS Study Group Bourinaris Thomas SYNAPS Study Group Kaiyrzhanov Rauan SYNAPS Study Group Chelban Viorica SYNAPS Study Group Madej Monika SYNAPS Study Group Diana Maria C. SYNAPS Study Group Vari Maria S. SYNAPS Study Group Pedemonte Marina SYNAPS Study Group Bruno Claudio SYNAPS Study Group Balagura Ganna SYNAPS Study Group Scala Marcello SYNAPS Study Group Fiorillo Chiara SYNAPS Study Group Nobili Lino SYNAPS Study Group Malintan Nancy T. SYNAPS Study Group Zanetti Maria N. SYNAPS Study Group Krishnakumar Shyam S. SYNAPS Study Group Lignani Gabriele SYNAPS Study Group Jepson James E. C. SYNAPS Study Group Broda Paolo SYNAPS Study Group Baldassari Simona SYNAPS Study Group Rossi Pia SYNAPS Study Group Fruscione Floriana SYNAPS Study Group Madia Francesca SYNAPS Study Group Traverso Monica SYNAPS Study Group De-Marco Patrizia SYNAPS Study Group Perez-Duenas Belen SYNAPS Study Group Munell Francina SYNAPS Study Group Kriouile Yamna SYNAPS Study Group El-Khorassani Mohamed SYNAPS Study Group Karashova Blagovesta SYNAPS Study Group Avdjieva Daniela SYNAPS Study Group Kathom Hadil SYNAPS Study Group Tincheva Radka SYNAPS Study Group Van-Maldergem Lionel SYNAPS Study Group Nachbauer Wolfgang SYNAPS Study Group Boesch Sylvia SYNAPS Study Group Gagliano Antonella SYNAPS Study Group Amadori Elisabetta SYNAPS Study Group Goraya Jatinder S. SYNAPS Study Group Sultan Tipu SYNAPS Study Group Kirmani Salman SYNAPS Study Group Ibrahim Shahnaz SYNAPS Study Group Jan Farida SYNAPS Study Group Mine, Jun Department of Pediatrics, Shimane University School of Medicine, 89-1 Enya, Izumo, Shimane, 6938501, Japan Banu Selina SYNAPS Study Group Veggiotti Pierangelo SYNAPS Study Group Zuccotti Gian V SYNAPS Study Group Ferrari Michel D. SYNAPS Study Group Van Den Maagdenberg Arn M. J. SYNAPS Study Group Verrotti Alberto SYNAPS Study Group Marseglia Gian L. SYNAPS Study Group Savasta Salvatore SYNAPS Study Group Soler Miguel A. SYNAPS Study Group Scuderi Carmela SYNAPS Study Group Borgione Eugenia SYNAPS Study Group Chimenz Roberto SYNAPS Study Group Gitto Eloisa SYNAPS Study Group Dipasquale Valeria SYNAPS Study Group Sallemi Alessia SYNAPS Study Group Fusco Monica SYNAPS Study Group Cuppari Caterina SYNAPS Study Group Cutrupi Maria C. SYNAPS Study Group Ruggieri Martino SYNAPS Study Group Cama Armando SYNAPS Study Group Capra Valeria SYNAPS Study Group Mencacci Niccolo E. SYNAPS Study Group Boles Richard SYNAPS Study Group Gupta Neerja SYNAPS Study Group Kabra Madhulika SYNAPS Study Group Papacostas Savvas SYNAPS Study Group Zamba-Papanicolaou Eleni SYNAPS Study Group Dardiotis Efthymios SYNAPS Study Group Maqbool Shazia SYNAPS Study Group Rana Nuzhat SYNAPS Study Group Atawneh Osama SYNAPS Study Group Lim Shen Y. SYNAPS Study Group Shaikh Farooq SYNAPS Study Group Koutsis George SYNAPS Study Group Breza Marianthi SYNAPS Study Group Coviello Domenico A. SYNAPS Study Group Dauvilliers Yves A. SYNAPS Study Group AlKhawaja Issam SYNAPS Study Group AlKhawaja Mariam SYNAPS Study Group Al-Mutairi Fuad SYNAPS Study Group Stojkovic Tanya SYNAPS Study Group Ferrucci Veronica SYNAPS Study Group Zollo Massimo SYNAPS Study Group Alkuraya Fowzan S. SYNAPS Study Group Kinali Maria SYNAPS Study Group Sherifa Hamed SYNAPS Study Group Benrhouma Hanene SYNAPS Study Group Turki Ilhem B. Y. SYNAPS Study Group Tazir Meriem SYNAPS Study Group Obeid Makram SYNAPS Study Group Bakhtadze Sophia SYNAPS Study Group Saadi Nebal W. SYNAPS Study Group Zaki Maha S. SYNAPS Study Group Triki Chahnez C. SYNAPS Study Group Benfenati Fabio SYNAPS Study Group Gustincich Stefano SYNAPS Study Group Kara Majdi SYNAPS Study Group Belcastro Vincenzo SYNAPS Study Group Specchio Nicola SYNAPS Study Group Capovilla Giuseppe SYNAPS Study Group Karimiani Ehsan G. SYNAPS Study Group Salih Ahmed M. SYNAPS Study Group Okubadejo Njideka U. SYNAPS Study Group Ojo Oluwadamilola O. SYNAPS Study Group Oshinaike Olajumoke O. SYNAPS Study Group Oguntunde Olapeju SYNAPS Study Group Wahab Kolawole SYNAPS Study Group Bello Abiodun H. SYNAPS Study Group Abubakar Sanni SYNAPS Study Group Obiabo Yahaya SYNAPS Study Group Nwazor Ernest SYNAPS Study Group Ekenze Oluchi SYNAPS Study Group Williams Uduak SYNAPS Study Group Iyagba Alagoma SYNAPS Study Group Taiwo Lolade SYNAPS Study Group Komolafe Morenikeji SYNAPS Study Group Senkevich Konstantin SYNAPS Study Group Shashkin Chingiz SYNAPS Study Group Zharkynbekova Nazira SYNAPS Study Group Koneyev Kairgali SYNAPS Study Group Manizha Ganieva SYNAPS Study Group Isrofilov Maksud SYNAPS Study Group Guliyeva Ulviyya SYNAPS Study Group Salayev Kamran SYNAPS Study Group Khachatryan Samson SYNAPS Study Group Rossi Salvatore SYNAPS Study Group Silvestri Gabriella SYNAPS Study Group Haridy Nourelhoda SYNAPS Study Group Ramenghi Luca A. SYNAPS Study Group Xiromerisiou Georgia SYNAPS Study Group David Emanuele SYNAPS Study Group Aguennouz Mhammed SYNAPS Study Group Fidani Liana SYNAPS Study Group Spanaki Cleanthe SYNAPS Study Group Tucci Arianna SYNAPS Study Group
掲載誌名	NATURE COMMUNICATIONS
巻	10
ISSN	2041-1723
発行日	2019-07-12
DOI	10.1038/s41467-019-10910-w
PubMed ID	31300657
出版者	NATURE PUBLISHING GROUP
資料タイプ	学術雑誌論文
部局	医学部
備考	We gratefully acknowledge all the families for their enthusiastic participation to this study. Further acknowledgements can be found in Supplementary Note 29. This study was supported by the Wellcome Trust (WT093205MA and WT104033AIA), Medical Research Council (H.H. and D.M.K.), European Community's Seventh Framework Programme (FP7/2007-2013, under grant agreement No. 2012-305121 to H.H.), Muscular Dystrophy Association (MDA), Muscular Dystrophy UK, The MSA Trust, Ataxia UK, The Sparkes Children's Medical Research Charity, The Great Ormond Street Hospital Charity, Rosetrees Trust, Brain Research UK, The UK HSP Society, The European Union's Horizon 2020 research and innovation programme Solve-RD project (No 779257), The Pakistan Council (Scholarship to HT), The National Natural Science Foundation of China (31671114, 81871079, 81330027, and 81525007 to H.G. and K.X.) and the US National Institutes of Health (NIH grant R01MH101221 to E.E.E). E.E.E. is an investigator of the Howard Hughes Medical Institute. We acknowledge the CINECA Awards N. HP10BTJPER, 2017 (to SF), for the availability of high performance computing resources and support. We are also supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). We are grateful to M. Farrant and S. Cull-Candy for helpful suggestions and the stargazin plasmid. We also acknowledge the University of Washington Center for Mendelian Genomics.